NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) AND multiple conditions

delete

Germline classification:: Benign (1 submission)
Last evaluated:: Jan 20, 2020
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001646105.1

Allele description

NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)

Gene:

BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)

Other names:

p.D935N:GAT>AAT

HGVS:

NC_000013.11:g.32337158G>A
NG_012772.3:g.26679G>A
NM_000059.3:c.2803G>A
NM_000059.4:c.2803G>AMANE SELECT
NP_000050.2:p.Asp935Asn
NP_000050.3:p.Asp935Asn
LRG_293t1:c.2803G>A
LRG_293:g.26679G>A
LRG_293p1:p.Asp935Asn
NC_000013.10:g.32911295G>A
NM_000059.4:c.2803G>A
U43746.1:n.3031G>A
p.D935N

Protein change:

D935N

Links:

dbSNP: rs28897716

NCBI 1000 Genomes Browser:

rs28897716

Molecular consequence:

NM_000059.3:c.2803G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_000059.4:c.2803G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Breast-ovarian cancer, familial 2 (BROVCA2)
Synonyms:: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; Breast cancer, familial 2
Identifiers:: MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

Name:: Breast-ovarian cancer, familial 1 (BROVCA1)
Synonyms:: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; OVARIAN CANCER, SUSCEPTIBILITY TO; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

Name:: Hereditary breast and ovarian cancer syndrome (HBOC)
Synonyms:: Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC)
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145; OMIM: PS604370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001854734	Research and Development, ARUP Laboratories	criteria provided, single submitter (Plon et al Hum Mutat 2008 29:1282-91 Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results)	Benign (Jan 20, 2020)	germline	curation	PubMed (3) [See all records that cite these PMIDs] 18375895, 26913838, 18951446 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001854734

Research and Development, ARUP Laboratories

criteria provided, single submitter

(Plon et al Hum Mutat 2008 29:1282-91 Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results)

Benign
(Jan 20, 2020)

germline

curation

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators.

Spurdle AB, Lakhani SR, Healey S, Parry S, Da Silva LM, Brinkworth R, Hopper JL, Brown MA, Babikyan D, Chenevix-Trench G, Tavtigian SV, Goldgar DE; kConFab Investigators..

J Clin Oncol. 2008 Apr 1;26(10):1657-63. doi: 10.1200/JCO.2007.13.2779.

PubMed [citation]

PMID:: 18375895

Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.

Vallée MP, Di Sera TL, Nix DA, Paquette AM, Parsons MT, Bell R, Hoffman A, Hogervorst FB, Goldgar DE, Spurdle AB, Tavtigian SV.

Hum Mutat. 2016 Jul;37(7):627-39. doi: 10.1002/humu.22973. Epub 2016 Apr 15.

PubMed [citation]

PMID:: 26913838
PMCID:: PMC4907813

See all PubMed Citations (3)

Details of each submission

From Research and Development, ARUP Laboratories, SCV001854734.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 11, 2021

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